World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
57
Citations
12437
World Ranking
3408
National Ranking
410

Overview

Sara E. Mole is affiliated with University College London in the United Kingdom. Their research primarily spans the fields of Medicine and Biochemistry, Genetics and Molecular Biology, with substantial contributions to the subfields of Physiology, Molecular Biology, Cell Biology, Epidemiology, and Public Health, Environmental and Occupational Health.

The scientist's work focuses on several key topics, including:

  • Lysosomal Storage Disorders Research
  • Cellular transport and secretion
  • Calcium signaling and nucleotide metabolism
  • Glycogen Storage Diseases and Myoclonus
  • RNA regulation and disease
  • Cystic Fibrosis Research Advances
  • Autophagy in Disease and Therapy

Frequent publication venues for their studies include:

  • Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Orphanet Journal of Rare Diseases
  • Scientific Reports
  • F1000Research

Recent papers authored or co-authored by Sara E. Mole demonstrate a strong focus on genetic and clinical aspects of neuronal ceroid lipofuscinoses and related diseases. These papers include:

  • The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses, 2021, Frontiers in Neurology
  • Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients, 2021, Orphanet Journal of Rare Diseases
  • Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype, 2021, EMBO Molecular Medicine
  • Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis, 2022, Nature Communications
  • Gene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model of CLN3 Batten Disease, 2020, Human Gene Therapy

Sara E. Mole has collaborated extensively with a range of other researchers, with frequent co-authors including:

  • Paul Gissen (9 co-authored papers)
  • Christopher J. Minnis (7 co-authored papers)
  • Tristan R. McKay (6 co-authored papers)
  • Angela Schulz (5 co-authored papers)
  • Marina García-Macia (5 co-authored papers)

Best Publications

  • Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A

    L M Mulligan;J B Kwok;C S Healey;M J Elsdon

  • Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

    Katherine R. Smith;Katherine R. Smith;John Damiano;Silvana Franceschetti;Stirling Carpenter

  • Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

    Maria Kousi;Anna-Elina Lehesjoki;Sara E. Mole

  • The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.

    Susanna Ranta;Yonghui Zhang;Barbara Ross;Liina Lonka

  • Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

    Sara E. Mole;Ruth E. Williams;Hans H. Goebel

  • The neuronal ceroid lipofuscinoses : batten disease

    Sara E. Mole;Matti Haltia

  • Genetics of the neuronal ceroid lipofuscinoses (Batten disease).

    Sara E. Mole;Susan L. Cotman

  • Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

    Lenka Nosková;Viktor Stránecký;Hana Hartmannová;Anna Přistoupilová

  • Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

    Jose Bras;Alain Verloes;Susanne A. Schneider;Sara E. Mole

  • Spectrum of Mutations in the Batten Disease Gene, CLN3

    Patricia B. Munroe;Hannah M. Mitchison;Angela M. O'Rawe;John W. Anderson

  • New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

    Ruth E. Williams;Sara E. Mole

  • Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6

    Mallorie Poët;Uwe Kornak;Michaela Schweizer;Anselm A. Zdebik

  • The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.

    Ruth B. Wheeler;Julie D. Sharp;Roger A. Schultz;John M. Joslin

  • Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

    Todor Arsov;Katherine R Smith;John Anthony Damiano;Silvana Franceschetti

  • Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis.

    Sara E Mole;Glenn Anderson;Heather A Band;Samuel F Berkovic

  • Mutations in the Palmitoyl-Protein Thioesterase Gene (PPT; CLN1) Causing Juvenile Neuronal Ceroid Lipofuscinosis with Granular Osmiophilic Deposits

    Hannah M. Mitchison;Sandra L. Hofmann;Carlos H R Becerra;Patricia B. Munroe

  • Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

    Katherine R. Smith;Hans Henrik M Dahl;Laura Canafoglia;Eva Andermann

  • Neuronal ceroid lipofuscinoses

    Dragos A. Nita;Sara E. Mole;Berge A. Minassian

  • Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

    Maria Kousi;Eija Siintola;Lenka Dvorakova;Hana Vlaskova

  • Neuronal ceroid lipofuscinoses

    Sara Mole

Frequent Co-Authors

Patricia B. Munroe
Patricia B. Munroe Queen Mary University of London
Hannah M. Mitchison
Hannah M. Mitchison University College London
Martijn H. Breuning
Martijn H. Breuning Leiden University Medical Center
Robin R. Ali
Robin R. Ali King's College London
Jonathan D. Cooper
Jonathan D. Cooper Washington University in St. Louis
David P. Lane
David P. Lane Karolinska Institute
Paul Gissen
Paul Gissen University College London
Irma Järvelä
Irma Järvelä University of Helsinki
David F. Callen
David F. Callen University of Adelaide
Thomas Braulke
Thomas Braulke University Medical Center Hamburg-Eppendorf

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

Studying genetics opens doors to a variety of healthcare and research careers, but there are alternative online degrees you might also consider. For those interested in administrative roles within healthcare, pursuing a health administration degree online is an increasingly popular option. These programs offer flexibility and can often be completed at an accelerated pace. Looking to manage healthcare facilities? Various programs allow you to find the cheapest online healthcare management degree that aligns with your career goals and budget.

For students interested in frontline patient care, there are accessible pathways into nursing, including the easiest bsn program to get into for those seeking to quickly begin their nursing journey. Additionally, those with an interest in healthcare data should explore medical coder certification programs, which provide the credentials needed for in-demand coding and billing positions. Together, these online education pathways complement careers in genetics and broaden your opportunities in the healthcare field.

Best Scientists Citing Sara E. Mole

Trending Scientists